Variant report

Variant	nsv1018830
Chromosome Location	chr8:118705140-118720649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:41464202..41466567-chr8:118705753..118708753,3	K562	blood:
2	chr8:118690454..118692255-chr8:118707396..118710340,2	K562	blood:
3	chr17:41466442..41468590-chr8:118705753..118707273,2	MCF-7	breast:
4	chr17:41466393..41467110-chr8:118706773..118707773,2	Hela-S3	cervix:
5	chr8:118316815..118318794-chr8:118706403..118708288,2	MCF-7	breast:
6	chr17:41464202..41465897-chr8:118705753..118707273,2	K562	blood:
7	chr17:41466304..41468583-chr8:118705753..118707273,3	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EXT1-5	chr8:118717789-118718077	NONHSAT128400

No data

Variant related genes	Relation type
ENSG00000188825	chromatin interactions

Extended variants
information (count: 554 )
Associated
traits (count: 130 )

Variant overlapped rSNPs/rCNVs (count:554 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117065144	chr8:118705143-118705144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4526389	chr8:118705185-118705186	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs58586777	chr8:118705202-118705203	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs115137296	chr8:118705282-118705283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545941150	chr8:118705364-118705365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564039984	chr8:118705366-118705367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546025269	chr8:118705384-118705385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528158431	chr8:118705414-118705415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180756477	chr8:118705419-118705420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561661172	chr8:118705433-118705434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569252006	chr8:118705434-118705435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551301904	chr8:118705481-118705482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186013319	chr8:118705529-118705530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569532451	chr8:118705547-118705548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs3134385	chr8:118705662-118705663	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550261603	chr8:118705682-118705683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141968798	chr8:118705697-118705698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17815523	chr8:118705703-118705704	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs539126968	chr8:118705736-118705737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555517258	chr8:118705750-118705751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112022420	chr8:118705775-118705776	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs114766982	chr8:118705780-118705781	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs561671644	chr8:118705786-118705787	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569918752	chr8:118705825-118705826	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs575157761	chr8:118705859-118705860	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545698501	chr8:118705909-118705910	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs557921807	chr8:118705917-118705918	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs572894976	chr8:118706022-118706023	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189683912	chr8:118706050-118706051	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs570596348	chr8:118706096-118706097	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561721381	chr8:118706158-118706159	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145634498	chr8:118706165-118706166	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs181287600	chr8:118706192-118706193	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs16890098	chr8:118706201-118706202	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs185654605	chr8:118706213-118706214	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs551721857	chr8:118706275-118706276	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560727046	chr8:118706309-118706310	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs527828756	chr8:118706333-118706334	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549458563	chr8:118706361-118706362	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs138371228	chr8:118706390-118706391	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs537862480	chr8:118706464-118706465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549734760	chr8:118706505-118706506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568838063	chr8:118706552-118706553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs371212544	chr8:118706578-118706579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs114314286	chr8:118706579-118706580	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs116456454	chr8:118706583-118706584	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542574684	chr8:118706597-118706598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs59000419	chr8:118706613-118706614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560482099	chr8:118706614-118706615	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs115843153	chr8:118706621-118706622	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:130)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118689200-118718600	Weak transcription	Osteobl	bone
2	chr8:118692400-118714400	Weak transcription	HSMM	muscle
3	chr8:118694600-118723800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:118699200-118709800	Weak transcription	HUVEC	blood vessel
5	chr8:118702200-118712600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:118702200-118724600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:118704000-118709800	Weak transcription	Aorta	Aorta
8	chr8:118704800-118705600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:118704800-118706400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:118705200-118705600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:118705400-118705600	Enhancers	Fetal Muscle Leg	muscle
12	chr8:118705400-118705800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:118705400-118705800	Enhancers	Esophagus	oesophagus
14	chr8:118705800-118714600	Weak transcription	Esophagus	oesophagus
15	chr8:118706200-118706400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:118706400-118709400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:118707000-118708600	Enhancers	Ovary	ovary
18	chr8:118707200-118707600	Enhancers	Fetal Muscle Trunk	muscle
19	chr8:118707200-118708400	Enhancers	Fetal Muscle Leg	muscle
20	chr8:118707400-118708400	Enhancers	Left Ventricle	heart
21	chr8:118708400-118710600	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:118708600-118725200	Weak transcription	Ovary	ovary
23	chr8:118709400-118709600	Enhancers	NHDF-Ad	bronchial
24	chr8:118709400-118709800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:118709400-118711000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:118709400-118712000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:118709600-118715400	Weak transcription	NHDF-Ad	bronchial
28	chr8:118709800-118710200	Enhancers	Primary hematopoietic stem cells	blood
29	chr8:118709800-118710200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:118709800-118710400	Enhancers	Aorta	Aorta
31	chr8:118709800-118710400	Enhancers	HUVEC	blood vessel
32	chr8:118709800-118710800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr8:118709800-118711000	Enhancers	Adipose Nuclei	Adipose
34	chr8:118709800-118711000	Enhancers	Fetal Intestine Large	intestine
35	chr8:118710000-118711200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:118710200-118711000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:118710400-118713600	Weak transcription	HUVEC	blood vessel
38	chr8:118710400-118737200	Weak transcription	Aorta	Aorta
39	chr8:118710600-118711000	Enhancers	Fetal Muscle Leg	muscle
40	chr8:118710800-118714400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:118711000-118714400	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:118711000-118714600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:118711200-118714400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:118712000-118714400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:118713600-118714400	Enhancers	HUVEC	blood vessel
46	chr8:118714000-118714600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr8:118714000-118715000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:118714000-118715200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr8:118714400-118714600	Enhancers	H9 Cell Line	embryonic stem cell
50	chr8:118714400-118714800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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